ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.2850T>C (p.Pro950=)

gnomAD frequency: 0.00351  dbSNP: rs115322282
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883563 SCV001026880 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000883563 SCV001473265 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289459 SCV001477282 benign not specified 2020-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000883563 SCV001823832 likely benign not provided 2021-10-24 criteria provided, single submitter clinical testing

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